Variant report

Variant	rs11650210
Chromosome Location	chr17:45579398-45579399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11079776	0.86[ASN][1000 genomes]
rs11651643	0.81[ASN][1000 genomes]
rs11651766	0.93[ASN][1000 genomes]
rs12449647	0.81[EUR][1000 genomes]
rs12451409	0.81[EUR][1000 genomes]
rs1912485	0.84[ASN][1000 genomes]
rs1912486	0.84[ASN][1000 genomes]
rs28458768	0.81[EUR][1000 genomes]
rs28507314	0.81[EUR][1000 genomes]
rs3736438	0.81[ASN][1000 genomes]
rs3871595	0.84[ASN][1000 genomes]
rs4114873	0.80[ASN][1000 genomes]
rs4968228	0.80[ASN][1000 genomes]
rs4968259	0.86[ASN][1000 genomes]
rs57427906	0.81[ASN][1000 genomes]
rs62076549	0.85[AFR][1000 genomes]
rs6504963	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7208530	0.81[EUR][1000 genomes]
rs7221548	0.85[AFR][1000 genomes]
rs8065990	0.82[AFR][1000 genomes]
rs8074451	0.81[ASN][1000 genomes]
rs8075058	0.80[ASN][1000 genomes]
rs9892497	0.81[EUR][1000 genomes]
rs9895509	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9895776	0.81[ASN][1000 genomes]
rs9897063	0.85[ASN][1000 genomes]
rs9899859	0.84[ASN][1000 genomes]
rs9900123	0.86[ASN][1000 genomes]
rs9901869	0.88[ASN][1000 genomes]
rs9903100	0.84[ASN][1000 genomes]
rs9904967	0.84[ASN][1000 genomes]
rs9905581	0.81[EUR][1000 genomes]
rs9907159	0.81[EUR][1000 genomes]
rs9908016	0.81[EUR][1000 genomes]
rs9908049	0.81[ASN][1000 genomes]
rs9912101	0.81[EUR][1000 genomes]
rs9913206	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv908568	chr17:45506682-45590420	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv908569	chr17:45537395-45603094	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv978433	chr17:45560111-45600707	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11650210	TBKBP1	cis	Artery Aorta	GTEx
rs11650210	TBKBP1	cis	Artery Tibial	GTEx
rs11650210	TBKBP1	cis	Nerve Tibial	GTEx
rs11650210	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs11650210	TBKBP1	cis	lung	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45570400-45579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:45577600-45579400	Weak transcription	Colonic Mucosa	Colon
3	chr17:45577600-45579400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:45578000-45579400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:45578400-45579400	Weak transcription	Fetal Stomach	stomach
6	chr17:45578400-45579800	Enhancers	Placenta	Placenta
7	chr17:45578600-45580200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45578800-45579400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:45578800-45579600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:45578800-45579800	Enhancers	Fetal Intestine Large	intestine
11	chr17:45579000-45579400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:45579000-45579600	Enhancers	Thymus	Thymus
13	chr17:45579000-45579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:45579000-45579800	Flanking Active TSS	Hela-S3	cervix
15	chr17:45579000-45579800	Enhancers	HMEC	breast
16	chr17:45579000-45579800	Enhancers	HSMM	muscle
17	chr17:45579000-45579800	Enhancers	HSMMtube	muscle
18	chr17:45579000-45580200	Enhancers	Fetal Thymus	thymus
19	chr17:45579000-45580600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr17:45579000-45580600	Enhancers	Dnd41	blood
21	chr17:45579200-45579400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:45579200-45579400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:45579200-45579400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:45579200-45579400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr17:45579200-45579400	Enhancers	Fetal Lung	lung
26	chr17:45579200-45579400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr17:45579200-45579400	Enhancers	A549	lung
28	chr17:45579200-45579400	Enhancers	NH-A	brain
29	chr17:45579200-45579400	Enhancers	NHEK	skin
30	chr17:45579200-45579400	Enhancers	Osteobl	bone
31	chr17:45579200-45579600	Enhancers	Primary B cells from cord blood	blood
32	chr17:45579200-45579600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr17:45579200-45579800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:45579200-45579800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:45579200-45579800	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:45579200-45579800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr17:45579200-45579800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr17:45579200-45579800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:45579200-45579800	Enhancers	Colon Smooth Muscle	Colon
40	chr17:45579200-45579800	Enhancers	Duodenum Mucosa	Duodenum
41	chr17:45579200-45579800	Enhancers	Fetal Brain Male	brain
42	chr17:45579200-45579800	Enhancers	Fetal Intestine Small	intestine
43	chr17:45579200-45579800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr17:45579200-45579800	Flanking Active TSS	GM12878-XiMat	blood
45	chr17:45579200-45579800	Flanking Active TSS	HepG2	liver
46	chr17:45579200-45579800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr17:45579200-45580000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr17:45579200-45580000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:45579200-45580000	Enhancers	K562	blood
50	chr17:45579200-45580200	Enhancers	Primary T helper cells fromperipheralblood	blood

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